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Waardenburg syndrome with dry eyes: A rare association
Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare c...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759548/ https://www.ncbi.nlm.nih.gov/pubmed/31572658 http://dx.doi.org/10.4103/tjo.tjo_103_18 |
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author | Shrinkhal, Singh, Anupam Mittal, Sanjeev Kumar Agrawal, Ajai Verma, Rupal Yadav, Preeti |
author_facet | Shrinkhal, Singh, Anupam Mittal, Sanjeev Kumar Agrawal, Ajai Verma, Rupal Yadav, Preeti |
author_sort | Shrinkhal, |
collection | PubMed |
description | Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare case of WS with associated dry eyes. A 4-year-old female presented with blue eyes and no tear and nasal secretion production since birth. She was also deaf and dumb since birth. On examination, it was recognized as an atypical case of WS type 2 clinically, with several classical features such as white forelock, bilateral blue iris, hypopigmented fundus, smooth philtrum, bilateral profound hearing loss, and a rare association of bilateral dry eyes. The patient was given proper refractive correction, treatment of her dry eyes, and subjected to multidisciplinary approach as for the management of sensorineural hearing loss. It was a case of WS type 2 with a rare association of bilateral dry eyes. |
format | Online Article Text |
id | pubmed-6759548 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-67595482019-09-30 Waardenburg syndrome with dry eyes: A rare association Shrinkhal, Singh, Anupam Mittal, Sanjeev Kumar Agrawal, Ajai Verma, Rupal Yadav, Preeti Taiwan J Ophthalmol Case Report Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare case of WS with associated dry eyes. A 4-year-old female presented with blue eyes and no tear and nasal secretion production since birth. She was also deaf and dumb since birth. On examination, it was recognized as an atypical case of WS type 2 clinically, with several classical features such as white forelock, bilateral blue iris, hypopigmented fundus, smooth philtrum, bilateral profound hearing loss, and a rare association of bilateral dry eyes. The patient was given proper refractive correction, treatment of her dry eyes, and subjected to multidisciplinary approach as for the management of sensorineural hearing loss. It was a case of WS type 2 with a rare association of bilateral dry eyes. Wolters Kluwer - Medknow 2019-09-12 /pmc/articles/PMC6759548/ /pubmed/31572658 http://dx.doi.org/10.4103/tjo.tjo_103_18 Text en Copyright: © 2019 Taiwan J Ophthalmol http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Shrinkhal, Singh, Anupam Mittal, Sanjeev Kumar Agrawal, Ajai Verma, Rupal Yadav, Preeti Waardenburg syndrome with dry eyes: A rare association |
title | Waardenburg syndrome with dry eyes: A rare association |
title_full | Waardenburg syndrome with dry eyes: A rare association |
title_fullStr | Waardenburg syndrome with dry eyes: A rare association |
title_full_unstemmed | Waardenburg syndrome with dry eyes: A rare association |
title_short | Waardenburg syndrome with dry eyes: A rare association |
title_sort | waardenburg syndrome with dry eyes: a rare association |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759548/ https://www.ncbi.nlm.nih.gov/pubmed/31572658 http://dx.doi.org/10.4103/tjo.tjo_103_18 |
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